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Detection of deletions at 7q11.23 in Williams-Beuren syndrome by polymorphic markers
(Faculdade de Medicina / USP, 2011)
INTRODUCTION: Williams-Beuren syndrome (WBS; OMIM 194050) is caused by a hemizygous contiguous gene microdeletion at 7q11.23. Supravalvular aortic stenosis, mental retardation, overfriendliness, and ocular and renal ...
Psychiatric manifestations of 22q11.2 deletion syndrome: a literature review
(Elsevier, 2018)
Introduction: The 22q11.2 deletion syndrome is a genetic disorder with variable clinical manifestations. It affects one out of 5950 neonates and has an autosomal dominant inheritance pattern. The aim of this article is to ...
Partial-AZFc deletions in Chilean men with primary spermatogenic impairment: gene dosage and Y-chromosome haplogroups
(Springer, 2020)
Purpose To investigate the association of partial-AZFc deletions in Chilean men with primary spermatogenic failure and their testicular histopathological phenotypes, analyzing the contribution ofDAZdosage,CDY1copies, and ...
Cytogenomic characterization of an unexpected 17.6 Mb 9p deletion associated to a 14.8 Mb 20p duplication in a dysmorphic patient with multiple congenital anomalies presenting a normal G-banding karyotype
(ELSEVIER SCIENCE BVAMSTERDAM, 2013-08-02)
We describe a female patient with developmental delay, dysmorphic features and multiple congenital anomalies who presented a normal G-banded karyotype at the 550-band resolution. Array and multiplex-ligation probe amplification ...
Prevalence of α-thalassemia 3.7 kb deletion in the adult population of Rio Grande do Norte, Brazil
(Sociedade Brasileira de Genética, 2012)
Multiple genetic origins of histidine-rich protein 2 gene deletion in Plasmodium falciparum parasites from Peru
(Springer Nature, 2013)
The majority of malaria rapid diagnostic tests (RDTs) detect Plasmodium falciparum histidine-rich protein 2 (PfHRP2), encoded by the pfhrp2 gene. Recently, P. falciparum isolates from Peru were found to lack pfhrp2 leading ...
Deletion of Epstein-Barr virus latent membrane protein 1 gene in Japanese and Brazilian gastric carcinomas, metastatic lesions, and reactive lymphocytes
(1998-01-01)
A 30-bp deletion in the Epstein-Barr virus (EBV) latent membrane protein 1 (LMP1) gene has been reported in nasopharyngeal carcinoma and EBV- associated malignant lymphomas. Information on this deletion in EBV- associated ...